Results 1 to 10 of about 9,602 (185)

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. [PDF]

Eur J Neurol
ABSTRACT Background and Objectives Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is still lacking.
Chitimus DM, Tard C, Fournier M, Bouhour F, Béhin A, Salort-Campana E, Lagrange E, Kaminsky AL, Magot A, Beltran S, Noury JB, Magy L, Solé G, Renard D, Spinazzi M, Demurger F, Cintas P, Nadaj-Pakleza A, Deibener-Kaminsky J, Bassez G, Taouagh N, Arrassi A, Lefeuvre C, Attarian S, Hamroun D, Laforêt P, for French Pompe study group.   +26 more
europepmc   +2 more sources

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]

Physiol Rep
Abstract People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an ...
Lanfranconi F, Peli L, Pollastri L, Ferri A, Tremolizzo L, Conti E, Pieruzzi F, Miserocchi G, Beretta E, Marzorati M, Zardo W, Gasperini S, Pretese R, Paci S, Capelli C, Mariani R, Cattoni A, Balduzzi AC, Parini R.   +18 more
europepmc   +2 more sources

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR). [PDF]

Eur J Neurol
Between 2017 and 2022, 13.5% of the 42,256 FILNEMUS patients (n = 5696) still lacked a confirmed diagnosis. Socio‐economic status and postcode are off the hook, but crossing the 50‐year mark sharply lengthens the gap between first symptoms and expert evaluation.
Dumas R, Jannot AS, Elarouci N, Salort-Campana E, Pisella L, Tard C, Sacconi S, Bouhour F, Sarrazin E, Spinazzi M, Laforet P, Pereon Y, Nadaj-Pakleza A, Echaniz-Laguna A, Choumert A, Magy L, Feasson L, Esselin F, Cances C, Espile C, Desguerre I, Rouzier C, Cintas P, Stojkovic T, Solé G, Attarian S, FILNEMUS Study Group.   +26 more
europepmc   +2 more sources

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
ABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +2 more sources

Narrative review on ethical and psychological issues raised by genetic and genomic testing in pediatric oncology care. [PDF]

J Genet Couns
Abstract In pediatric oncology, genetic and genomic tests are proposed throughout the care pathway for many reasons (e.g., cancer characterization, identification of the most appropriate treatment, patient selection for clinical trials, identification of tissue/organ donors, or risk of relapse prediction). Despite the many different approaches (somatic
Droin-Mollard M, Hervouet L, Lahlou-Laforêt K, de Montgolfier S.   +3 more
europepmc   +2 more sources

Management of an Endobronchial Pulmonary Paraganglioma via Bronchoscopic Resection. [PDF]

Respirol Case Rep
We present the case of 48‐year‐old female with a right main bronchus endobronchial lesion identified on positron emission tomography (PET) dotatate scan on a background of succinic dehydrogenase B gene mutation (SDHB) familial paraganglioma. Bronchoscopic management with argon plasma coagulation (APC) probe ablation was used to debulk the lesion which ...
Hoang K, Brown MV, Badiei A, Nguyen P.
europepmc   +2 more sources

Advancements in Immunity and Dementia Research: Highlights from the 2023 AAIC Advancements: Immunity Conference. [PDF]

Alzheimers Dement
Abstract The immune system is a key player in the onset and progression of neurodegenerative disorders. While brain resident immune cell‐mediated neuroinflammation and peripheral immune cell (eg, T cell) infiltration into the brain have been shown to significantly contribute to Alzheimer's disease (AD) pathology, the nature and extent of immune ...
Kloske CM, Mahinrad S, Barnum CJ, Batista AF, Bradshaw EM, Butts B, Carrillo MC, Chakrabarty P, Chen X, Craft S, Da Mesquita S, Dabin LC, Devanand D, Duran-Laforet V, Elyaman W, Evans EE, Fitzgerald-Bocarsly P, Foley KE, Harms AS, Heneka MT, Hong S, Huang YA, Jackvony S, Lai L, Guen YL, Lemere CA, Liddelow SA, Martin-Peña A, Orr AG, Quintana FJ, Ramey GD, Rexach JE, Rizzo SJS, Sexton C, Tang AS, Torrellas JG, Tsai AP, van Olst L, Walker KA, Wharton W, Tansey MG, Wilcock DM.   +41 more
europepmc   +2 more sources

Quo vadis, smallholder forest landscape? An introduction to the LPB-RAP model. [PDF]

PLoS ONE
The impacts of the Anthropocene on climate and biodiversity pose societal and ecological problems that may only be solved by ecosystem restoration.
Sonja Holler, Daniel Kübler, Olaf Conrad, Oliver Schmitz, Carmelo Bonannella, Tomislav Hengl, Jürgen Böhner, Sven Günter, Melvin Lippe   +8 more
doaj   +2 more sources

Contingencia y transcendencia en dos relatos breves de Carmen Laforet

Castilla: Estudios de Literatura, 2023
El estudio consiste en el análisis minucioso de dos relatos breves de Carmen Laforet publicados en 1952, “La muerta” y “Veraneo”, con el fin de sacar a relucir rasgos característicos de la poética y la estética general de la escritora que no han sido ...
Ken Benson
doaj   +1 more source

Libros y lecturas en el epistolario de Carmen Laforet y Elena Fortún

Lectora: Revista de Dones i Textualitat, 2022
La correspondencia entre las escritoras Carmen Laforet y Elena Fortún comienza en 1947 cuando, desde Madrid, Laforet escribe a la que considera su madre literaria, que todavía no había puesto fin a su exilio en Buenos Aires. Ya en Barcelona, continúa la
María Jesús Fraga Fernández Cuevas
doaj   +1 more source